PROBLEMS AND OBJECTIVES
Genetic (or idiopathic) generalised epilepsies (GGE) are well-known seizure disorders that affect roughly 30-40% of all patients with epilepsy. Although they can, in principle, be identified relatively easily, misdiagnosis and thus late initiation of treatment is still common. This is because electroencephalography and neuroimaging, important diagnostic tools, lack sensitivity and specificity. The first problem we address is thus whether we can improve diagnostics by modern neuroimaging that measures brain connectivity patterns in individual GGE patients.
The second problem we address is variability in clinical presentation. Although GGE have been historically classified based on age of presentation and seizure types patients suffer from, there is a lot of overalp in practice. Thus, while some experts assert that GGE are a group of distinct disease entitites, others say it is rather a spectrum, with different expression in individuals. Using the same neuroimaging technology, we aim to test as a secondary objective, whether there is structural overlap between GGE types.
As a final problem, we will explore whether brain connectivity patterns associate with medication response.
IMPORTANCE FOR SOCIETY
Epilepsies are common and debilitating disorders that generate a lot of individual suffering, reduce quality of life and shorten life spans. It also produces a sizable amount of direct and indirect costs via increased utilisation of health care systems and loss of productivity. Improving diagnostics can hasten therapeutic interventions and thus reduce mortality and morbidity in epilepsy. We hope this project will contribute to this effort.
